Variant report

Variant	rs793079
Chromosome Location	chr2:114391721-114391722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1040646	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1667099	0.85[JPT][hapmap]
rs17017000	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv961495	chr2:114381866-114415806	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv962001	chr2:114390234-114415806	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs793079	RPL23AP7	cis	multi-tissue	Pritchard
rs793079	MGC70863	trans	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114384600-114392000	Weak transcription	Fetal Brain Male	brain
2	chr2:114385200-114393200	Weak transcription	Aorta	Aorta
3	chr2:114385400-114391800	Weak transcription	Right Ventricle	heart
4	chr2:114385400-114392400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:114385400-114392600	Weak transcription	Ovary	ovary
6	chr2:114385400-114392800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:114385400-114392800	Weak transcription	Placenta	Placenta
8	chr2:114385400-114392800	Weak transcription	Osteobl	bone
9	chr2:114385400-114393000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:114385400-114393000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:114385400-114393000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:114385400-114393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:114385400-114393200	Weak transcription	NHDF-Ad	bronchial
14	chr2:114385400-114393400	Weak transcription	Pancreas	Pancrea
15	chr2:114385400-114393800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:114385400-114394000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:114385400-114394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:114385400-114394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:114385400-114395000	Weak transcription	Thymus	Thymus
20	chr2:114385800-114392000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:114385800-114392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:114385800-114393800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:114385800-114394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:114385800-114394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:114385800-114394200	Weak transcription	A549	lung
26	chr2:114385800-114394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:114385800-114394600	Weak transcription	Colonic Mucosa	Colon
28	chr2:114386000-114391800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:114386000-114392800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:114386000-114393000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:114386000-114393200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:114386000-114393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:114386000-114393400	Weak transcription	Fetal Kidney	kidney
34	chr2:114386000-114393600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:114386000-114393600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:114386000-114393800	Weak transcription	NHEK	skin
37	chr2:114386000-114394000	Weak transcription	Stomach Mucosa	stomach
38	chr2:114386000-114394400	Weak transcription	Gastric	stomach
39	chr2:114386000-114394600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:114386000-114394600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:114386000-114394600	Weak transcription	HSMMtube	muscle
42	chr2:114386000-114394800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:114386200-114393400	Weak transcription	Fetal Lung	lung
44	chr2:114386200-114393800	Weak transcription	Dnd41	blood
45	chr2:114386800-114393400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:114387600-114392200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:114387800-114391800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:114387800-114392600	Strong transcription	Adipose Nuclei	Adipose
49	chr2:114388200-114393400	Strong transcription	Fetal Stomach	stomach
50	chr2:114388400-114393000	Weak transcription	NH-A	brain

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